Gene Variant Detail

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Gene KIT
Variant D820G
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KIT D820G lies within the protein kinase domain of the Kit protein (UniProt.org). D820G has been identified as a secondary mutation associated with imatinib resistance (PMID: 18488160), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance Y
Category Variants Paths

KIT mutant KIT exon17 KIT D820G

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Transcript NM_000222.3
gDNA chr4:g.54733167A>G
cDNA c.2459A>G
Protein p.D820G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005265741.1 chr4:g.54733167A>G c.2459A>G p.D820G RefSeq GRCh38/hg38
XM_005265741 chr4:g.54733167A>G c.2459A>G p.D820G RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54733167A>G c.2459A>G p.D820G RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54733167A>G c.2459A>G p.D820G RefSeq GRCh38/hg38
NM_000222 chr4:g.54733167A>G c.2459A>G p.D820G RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54733167A>G c.2459A>G p.D820G RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT W557_K558del KIT D820G Advanced Solid Tumor sensitive Ponatinib Preclinical Actionable In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT D820G were sensitive to Iclusig (ponatinib) in an in vitro kinase assay (PMID: 25239608). 25239608
KIT W557_K558del KIT D820G Advanced Solid Tumor resistant Sunitinib Preclinical Actionable In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT D820G were resistant to Sutent (sunitinib) in an in vitro kinase assay (PMID: 25239608). 25239608
KIT W557_K558del KIT D820G Advanced Solid Tumor resistant Imatinib Preclinical Actionable In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT D820G were resistant to Gleevec (imatinib) in an in vitro kinase assay (PMID: 25239608). 25239608
KIT W557_K558del KIT D820G Advanced Solid Tumor resistant Regorafenib Preclinical Actionable In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT D820G were resistant to Stivarga (regorafenib) in an in vitro kinase assay (PMID: 25239608). 25239608
KIT W557Lfs*5 KIT P577del KIT D820G gastrointestinal stromal tumor resistant Imatinib Preclinical - Pdx Actionable In a preclinical study, a gastrointestinal stromal tumor patient-derived xenograft (PDX) model harboring KIT P577del, KIT W557Lfs*5, and KIT D820G demonstrated resistance to treatment with Gleevec (imatinib) (PMID: 27777285). 27777285
KIT W557Lfs*5 KIT P577del KIT D820G gastrointestinal stromal tumor sensitive Cabozantinib Preclinical - Pdx Actionable In a preclinical study, Cometriq (Cabometyx, cabozantinib) slowed tumor growth and decreased mitotic activity in a gastrointestinal stromal tumor patient-derived xenograft (PDX) model harboring KIT P577del, KIT W557Lfs*5, and KIT D820G (PMID: 27777285). 27777285
KIT W557Lfs*5 KIT P577del KIT D820G gastrointestinal stromal tumor sensitive PLX9486 Preclinical - Pdx Actionable In a preclinical study, PLX9486 treatment decreased Mapk phosphorylation and Kit downstream signaling, inhibited proliferation, and reduced tumor growth in a Gleevec (imatinib)-resistant patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT P577del, W557Lfs*5, and D820G (PMID: 30523507). 30523507
KIT W557Lfs*5 KIT P577del KIT D820G gastrointestinal stromal tumor sensitive Avapritinib Preclinical - Pdx Actionable In a preclinical study, a patient derived xenograft (PDX) model with a gastrointestinal stromal tumor harboring KIT W557Lfs*5, KIT P577del, and KIT D820G was sensitive to treatment with Ayvakit (avapritinib), demonstrating a stabilized tumor volume at a dose of 10mg/kg and 27% tumor regression at a dose of 30mg/kg, a histologic response, and apoptotic activity (PMID: 30274985). 30274985
KIT W557Lfs*5 KIT P577del KIT D820G gastrointestinal stromal tumor predicted - sensitive IDRX-42 Preclinical - Pdx Actionable In a preclinical study, IDRX-42 treatment inhibited mitosis and decreased tumor growth in a patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT P577del, W557Lfs*5, and D820G (Cancer Res 2022;82(12_Suppl):Abstract nr 2666). detail...
KIT W557Lfs*5 KIT P577del KIT D820G gastrointestinal stromal tumor predicted - sensitive Dovitinib Preclinical - Pdx Actionable In preclinical study, Dovitinib (TKI258) treatment stabilized tumor volume in a patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT P577del, KIT W557Lfs*5, and KIT D820G (PMID: 35625872). 35625872
KIT V559D KIT D820G Advanced Solid Tumor sensitive Flumatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells co-expressing KIT D820G and KIT V559D were sensitive to Flumatinib in culture, demonstrating decreased cell proliferation (PMID: 24205792). 24205792
KIT V555_L576del KIT D820G KIT D820Y gastrointestinal stromal tumor predicted - resistant Imatinib Case Reports/Case Series Actionable In a clinical study, KIT D820G and KIT D820Y were identified as secondary mutations in a patient with gastrointestinal stromal tumor harboring a primary KIT V555_L576del mutation, who developed resistance to Gleevec (imatinib) (PMID: 18488160). 18488160
KIT exon 11 del KIT D820G Advanced Solid Tumor predicted - sensitive THE-630 Preclinical - Cell culture Actionable In a preclinical study, THE-630 treatment inhibited growth of cells co-expressing a KIT exon 11 deletion and KIT D820G in culture (Cancer Res 2021;81(13_Suppl):Abstract nr 1292). detail...
KIT V560D KIT D820G KIT N822K KIT Y870* gastrointestinal stromal tumor predicted - resistant Binimetinib + Imatinib Case Reports/Case Series Actionable In a Phase II trial, KIT N822K and KIT D820G were identified as secondary resistance mutations in a patient with a gastrointestinal stromal tumor harboring primary KIT Y870* and V560D mutations who developed resistance to Gleevec (imatinib) and Mektovi (binimetinib) treatment (PMID: 35041493; NCT01991379). 35041493